ClinVar Miner

List of variants reported as pathogenic for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1120
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508 0.00019
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.372C>T (p.Val124=) rs371891909 0.00006
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.1768C>T (p.Gln590Ter) rs754685052 0.00004
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter) rs768530578 0.00002
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter) rs982944299 0.00002
NM_006767.4(LZTR1):c.353G>A (p.Arg118His) rs769001939 0.00002
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2850G>C (p.Gln950His) rs863224446 0.00001
NM_001042492.3(NF1):c.3709-2A>G rs1597722374 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_006767.4(LZTR1):c.1149+3A>G rs542715642 0.00001
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter) rs762434811 0.00001
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter) rs1924657431 0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 0.00001
NM_006767.4(LZTR1):c.1568del (p.Val523fs) rs990151749 0.00001
NM_006767.4(LZTR1):c.1587C>A (p.Tyr529Ter) rs371015800 0.00001
NM_006767.4(LZTR1):c.1729C>T (p.Gln577Ter) rs1390034681 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_006767.4(LZTR1):c.401-2A>G rs1222197005 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.482del (p.Gln161fs) rs1924462309 0.00001
NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter) rs1458120855 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.529del (p.Ala177fs) rs558510095 0.00001
NM_006767.4(LZTR1):c.594-2A>G rs1374011263 0.00001
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter) rs749437251 0.00001
NM_006767.4(LZTR1):c.671dup (p.Ser227fs) rs1351226319 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006767.4(LZTR1):c.955C>T (p.Gln319Ter) rs1924617179 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NC_000022.11:g.20988013del rs774779041
NM_000267.3(NF1):c.1393_1394delAG rs1597698310
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000267.3(NF1):c.3199_3200delGA
NM_000267.3(NF1):c.4111delG
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000267.3:c.5845_5846insALU
NM_000267.3:c.6130_6131insALU
NM_001042492.3(NF1):c.-2_3del (p.Met1fs)
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs) rs2066509100
NM_001042492.3(NF1):c.1023_1024insGACA (p.Ile342fs) rs2143874147
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter) rs1555610910
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1063-13G>A rs1131691066
NM_001042492.3(NF1):c.1063-2A>G rs1060500358
NM_001042492.3(NF1):c.1074del (p.Phe358fs)
NM_001042492.3(NF1):c.1095_1096del (p.Gly367fs) rs1597681960
NM_001042492.3(NF1):c.1110del (p.Ala371fs) rs2066519817
NM_001042492.3(NF1):c.1121_1122del (p.Asp374fs) rs1597682030
NM_001042492.3(NF1):c.1128dup (p.Ile377fs)
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
NM_001042492.3(NF1):c.1179del (p.Phe394fs) rs2143880536
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter) rs1597682159
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1185+2T>A
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.118A>T (p.Lys40Ter)
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter) rs1597682751
NM_001042492.3(NF1):c.1224T>A (p.Tyr408Ter) rs1555611089
NM_001042492.3(NF1):c.122A>T (p.Glu41Val) rs786203038
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter) rs1241533665
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.1260+2T>C rs1555611110
NM_001042492.3(NF1):c.1261-2A>G rs2066618684
NM_001042492.3(NF1):c.1282A>T (p.Lys428Ter)
NM_001042492.3(NF1):c.1302T>A (p.Cys434Ter) rs1555611570
NM_001042492.3(NF1):c.1307_1316del (p.Ser436fs) rs1597688786
NM_001042492.3(NF1):c.1327_1330del (p.Phe443fs)
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer) rs2143915068
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1392+2del rs1597689068
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter) rs1597698330
NM_001042492.3(NF1):c.1423del (p.Lys476fs)
NM_001042492.3(NF1):c.1428del (p.Lys476fs)
NM_001042492.3(NF1):c.1431_1433delinsAT (p.Phe477fs)
NM_001042492.3(NF1):c.1435_1438del (p.Glu479fs)
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter) rs2143959211
NM_001042492.3(NF1):c.1440_1441delinsG (p.Pro481fs)
NM_001042492.3(NF1):c.1450del (p.Leu484fs) rs2143959373
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
NM_001042492.3(NF1):c.146dup (p.Tyr49Ter)
NM_001042492.3(NF1):c.1502del (p.His501fs)
NM_001042492.3(NF1):c.1522del (p.Leu508fs) rs1952238027
NM_001042492.3(NF1):c.1527+1G>T rs1060500331
NM_001042492.3(NF1):c.1527+1del rs2143960866
NM_001042492.3(NF1):c.1527+2T>G rs1064796700
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_001042492.3(NF1):c.154_158del (p.Ser52fs)
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.3(NF1):c.1572del (p.Glu524fs) rs1085307461
NM_001042492.3(NF1):c.1587del (p.Val530fs)
NM_001042492.3(NF1):c.1630del (p.Glu544fs)
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter) rs2066877587
NM_001042492.3(NF1):c.1642-3C>G rs1597706610
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1651del (p.Val551fs)
NM_001042492.3(NF1):c.1661_1663dup (p.Leu555Ter)
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_001042492.3(NF1):c.166del (p.Ser56fs)
NM_001042492.3(NF1):c.1711del (p.Trp571fs) rs1597706737
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg) rs2144015494
NM_001042492.3(NF1):c.1724C>G (p.Ser575Ter) rs915463951
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_001042492.3(NF1):c.1729del (p.Met577fs)
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer)
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1759dup (p.Ser587fs)
NM_001042492.3(NF1):c.1761_1762del (p.Ser587fs)
NM_001042492.3(NF1):c.176del (p.Thr59fs)
NM_001042492.3(NF1):c.1788del (p.Leu597fs)
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter) rs1131691130
NM_001042492.3(NF1):c.1811T>A (p.Leu604Ter) rs1555613427
NM_001042492.3(NF1):c.1818C>A (p.Cys606Ter) rs1567845937
NM_001042492.3(NF1):c.1840_1841dup (p.Asn614fs)
NM_001042492.3(NF1):c.1845+1G>A rs1567845945
NM_001042492.3(NF1):c.1845+1G>T
NM_001042492.3(NF1):c.1845+1_1845+5del rs1135402822
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1846-569A>C
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.3(NF1):c.1876del (p.Leu626fs) rs1597710409
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs) rs1555613558
NM_001042492.3(NF1):c.1884C>A (p.Tyr628Ter) rs555635097
NM_001042492.3(NF1):c.1884_1885delinsTAA (p.Gly629fs)
NM_001042492.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_001042492.3(NF1):c.1902_1959dup (p.Pro654delinsSerPheTer)
NM_001042492.3(NF1):c.1907dup (p.Ser636_Ser637insTer)
NM_001042492.3(NF1):c.1917dup (p.Thr640fs)
NM_001042492.3(NF1):c.191del (p.Asn64fs) rs1555604941
NM_001042492.3(NF1):c.1929_1932del (p.Met643fs)
NM_001042492.3(NF1):c.1934dup (p.Met645fs)
NM_001042492.3(NF1):c.1954del (p.Arg652fs) rs1597710675
NM_001042492.3(NF1):c.1955del (p.Arg652fs) rs1597710690
NM_001042492.3(NF1):c.1985_1986del (p.Lys662fs) rs2066993468
NM_001042492.3(NF1):c.1995del (p.Ser666fs) rs2066993840
NM_001042492.3(NF1):c.1A>C (p.Met1Leu) rs1060500252
NM_001042492.3(NF1):c.1A>G (p.Met1Val) rs1060500252
NM_001042492.3(NF1):c.1A>T (p.Met1Leu) rs1060500252
NM_001042492.3(NF1):c.2007_2010dup (p.Ala671fs)
NM_001042492.3(NF1):c.2016_2031del (p.Cys673fs)
NM_001042492.3(NF1):c.2023G>T (p.Gly675Ter)
NM_001042492.3(NF1):c.2033_2034delinsA (p.Pro678fs) rs2151425601
NM_001042492.3(NF1):c.2034del (p.Ile679fs) rs1567847384
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_001042492.3(NF1):c.2036_2043dup (p.Gln682fs) rs2151425597
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2047_2057dup (p.Leu687fs) rs1597712403
NM_001042492.3(NF1):c.205-2A>C rs1597629679
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2098del (p.Thr700fs)
NM_001042492.3(NF1):c.2109_2122del (p.Val705fs)
NM_001042492.3(NF1):c.2132_2136dup (p.Leu713fs)
NM_001042492.3(NF1):c.2136_2142del (p.His712fs) rs1555613811
NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter) rs141382637
NM_001042492.3(NF1):c.2146_2149del (p.Glu716fs)
NM_001042492.3(NF1):c.2158del (p.Arg720fs) rs1597712619
NM_001042492.3(NF1):c.2160dup (p.Cys721fs)
NM_001042492.3(NF1):c.2166_2170del (p.Gly722_Val723insTer)
NM_001042492.3(NF1):c.2189dup (p.Asn730fs)
NM_001042492.3(NF1):c.2229_2232del (p.Val744fs)
NM_001042492.3(NF1):c.2229dup (p.Val744fs) rs2067020544
NM_001042492.3(NF1):c.2251+1G>A rs1555613843
NM_001042492.3(NF1):c.2251+2T>G rs864622142
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2253_2254dup (p.Arg752fs)
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2271_2272del (p.Arg758fs) rs2067030828
NM_001042492.3(NF1):c.2274_2275del (p.Arg758fs) rs2151426874
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2294_2295del (p.Arg765fs) rs2067031470
NM_001042492.3(NF1):c.2294del (p.Arg765fs) rs2151426934
NM_001042492.3(NF1):c.2324A>C (p.Glu775Ala) rs2067032355
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-2A>G rs1555613975
NM_001042492.3(NF1):c.2326-2A>T
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2330G>A (p.Trp777Ter) rs199474745
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2352G>A (p.Trp784Ter) rs199474778
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_001042492.3(NF1):c.237del (p.Leu79fs) rs2143645855
NM_001042492.3(NF1):c.2388del (p.Ala797fs) rs1555614011
NM_001042492.3(NF1):c.2388dup (p.Ala797fs) rs1555614011
NM_001042492.3(NF1):c.2395del (p.Met799fs)
NM_001042492.3(NF1):c.2398G>T (p.Glu800Ter) rs2151427599
NM_001042492.3(NF1):c.239_240del (p.Tyr80fs)
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2409+1G>C rs1555614022
NM_001042492.3(NF1):c.2409+1G>T rs1555614022
NM_001042492.3(NF1):c.240T>G (p.Tyr80Ter)
NM_001042492.3(NF1):c.2410-14A>G rs773710071
NM_001042492.3(NF1):c.2410-1G>A rs1057518792
NM_001042492.3(NF1):c.2429_2493del (p.Lys810fs) rs1597715102
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.246_247del (p.Gln83fs) rs771115661
NM_001042492.3(NF1):c.2491del (p.Thr831fs)
NM_001042492.3(NF1):c.2494del (p.Asp832fs)
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg) rs199474747
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2546_2550delinsAATT (p.Gly849fs)
NM_001042492.3(NF1):c.2610_2613dup (p.Glu872delinsGlnTer)
NM_001042492.3(NF1):c.2621_2634dup (p.Ser879delinsArgValLeuTer) rs1597715490
NM_001042492.3(NF1):c.2635dup (p.Ser879fs)
NM_001042492.3(NF1):c.2648C>G (p.Ser883Ter)
NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter)
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2666del (p.Thr889fs)
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.2679del (p.Lys893fs) rs2067071059
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.2725dup (p.Val909fs)
NM_001042492.3(NF1):c.2728_2729del (p.Gly910fs) rs1555614313
NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter) rs1597715673
NM_001042492.3(NF1):c.2752A>T (p.Lys918Ter)
NM_001042492.3(NF1):c.276del (p.Lys92fs)
NM_001042492.3(NF1):c.2773_2774dup (p.Leu925fs)
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2810del (p.Lys936_Leu937insTer) rs2067074098
NM_001042492.3(NF1):c.2820_2826del (p.Ile941fs) rs1597715824
NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter) rs1567849199
NM_001042492.3(NF1):c.2829dup (p.Phe944fs)
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter) rs1567849208
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_001042492.3(NF1):c.284del (p.Ala95fs) rs1597629895
NM_001042492.3(NF1):c.2850+1G>T rs1131691122
NM_001042492.3(NF1):c.2850G>A (p.Gln950=) rs863224446
NM_001042492.3(NF1):c.2851-1G>T rs1597716274
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.2855del (p.Leu952fs)
NM_001042492.3(NF1):c.2870del (p.Asn957fs) rs1555614423
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter) rs2151430537
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.288+1del rs1057519370
NM_001042492.3(NF1):c.288+2025T>G
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter) rs1597635615
NM_001042492.3(NF1):c.28_34del (p.Val10fs)
NM_001042492.3(NF1):c.28dup (p.Val10fs)
NM_001042492.3(NF1):c.2906del (p.Lys969fs)
NM_001042492.3(NF1):c.2918del (p.Asp973fs)
NM_001042492.3(NF1):c.2934del (p.Ser979fs) rs1555614448
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001042492.3(NF1):c.2978T>A (p.Leu993Ter) rs1555614460
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2994T>A (p.Tyr998Ter)
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro) rs753082620
NM_001042492.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_001042492.3(NF1):c.2T>C (p.Met1Thr) rs886041346
NM_001042492.3(NF1):c.2T>G (p.Met1Arg) rs886041346
NM_001042492.3(NF1):c.3000dup (p.Val1001fs)
NM_001042492.3(NF1):c.3010_3017dup (p.His1007fs)
NM_001042492.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_001042492.3(NF1):c.3046dup (p.Cys1016fs) rs2151431612
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter) rs2067091604
NM_001042492.3(NF1):c.3074_3096dup (p.Gln1033fs) rs1555614527
NM_001042492.3(NF1):c.3079_3106del (p.Asp1027fs)
NM_001042492.3(NF1):c.3082_3088del (p.Asp1028fs)
NM_001042492.3(NF1):c.3084_3106dup (p.Lys1036delinsThrSerHisPheAlaLysArgTer)
NM_001042492.3(NF1):c.3088del (p.Ser1030fs)
NM_001042492.3(NF1):c.3089C>G (p.Ser1030Ter) rs1567849864
NM_001042492.3(NF1):c.3102_3103del (p.Glu1034fs)
NM_001042492.3(NF1):c.3108del (p.Lys1036fs)
NM_001042492.3(NF1):c.3111del (p.Phe1037fs) rs1131691127
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3113+5G>A rs1555614549
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_001042492.3(NF1):c.3158C>A (p.Ser1053Ter) rs1597717610
NM_001042492.3(NF1):c.3158C>G (p.Ser1053Ter) rs1597717610
NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs) rs1555614642
NM_001042492.3(NF1):c.3163C>T (p.Gln1055Ter) rs866069972
NM_001042492.3(NF1):c.3183_3189del (p.Lys1062fs)
NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.319del (p.Thr107fs) rs1131691116
NM_001042492.3(NF1):c.3227dup (p.Val1077fs) rs1597718765
NM_001042492.3(NF1):c.3251del (p.Pro1084fs)
NM_001042492.3(NF1):c.3253_3254del (p.Leu1085fs)
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter) rs2067123355
NM_001042492.3(NF1):c.325del (p.Leu109fs)
NM_001042492.3(NF1):c.3262G>T (p.Glu1088Ter) rs2151433803
NM_001042492.3(NF1):c.3271_3272dup (p.Asp1091fs)
NM_001042492.3(NF1):c.3284T>A (p.Leu1095Ter)
NM_001042492.3(NF1):c.3301C>T (p.Gln1101Ter) rs2151433888
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3306del (p.Leu1102fs)
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_001042492.3(NF1):c.3315-10_3335del rs2151434411
NM_001042492.3(NF1):c.3315-2A>C rs1555614914
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3323del (p.Thr1108fs) rs2151434456
NM_001042492.3(NF1):c.3324dup (p.Leu1109fs) rs2151434460
NM_001042492.3(NF1):c.3330_3333del (p.Phe1110fs)
NM_001042492.3(NF1):c.3331del (p.Phe1110_Met1111insTer) rs2067134394
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.3352_3353del (p.Cys1117_Ser1118insTer)
NM_001042492.3(NF1):c.3367G>T (p.Glu1123Ter) rs1555614940
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_001042492.3(NF1):c.3380del (p.Thr1127fs) rs1597719498
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3392_3393del (p.Lys1131fs)
NM_001042492.3(NF1):c.3419C>A (p.Ser1140Ter)
NM_001042492.3(NF1):c.3422_3423del (p.Leu1141fs)
NM_001042492.3(NF1):c.3426del (p.Arg1142fs)
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter) rs1555614972
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3488_3491delinsTGACATGCT (p.His1163fs)
NM_001042492.3(NF1):c.3496G>A (p.Gly1166Ser) rs1597719704
NM_001042492.3(NF1):c.3496G>C (p.Gly1166Arg)
NM_001042492.3(NF1):c.3500T>A (p.Leu1167Ter)
NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter) rs786204253
NM_001042492.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_001042492.3(NF1):c.3604_3616del (p.Ala1202fs)
NM_001042492.3(NF1):c.3604del (p.Ala1202fs) rs1597720036
NM_001042492.3(NF1):c.3607_3614del (p.Ala1202_Asp1203insTer)
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_001042492.3(NF1):c.3623del (p.Leu1208fs)
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_001042492.3(NF1):c.3662del (p.Leu1221fs)
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.366del (p.His122fs)
NM_001042492.3(NF1):c.367_368del (p.Thr123fs) rs1597635793
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3720_3721del (p.Arg1241fs)
NM_001042492.3(NF1):c.372T>A (p.Cys124Ter)
NM_001042492.3(NF1):c.372del (p.Arg125fs)
NM_001042492.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3762C>A (p.Tyr1254Ter)
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_001042492.3(NF1):c.3765dup (p.Leu1256fs)
NM_001042492.3(NF1):c.3778_3782del (p.Met1260fs) rs1555615462
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.3822_3823dup (p.Phe1275fs)
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter) rs2143672195
NM_001042492.3(NF1):c.3866_3867insACCC (p.Phe1289fs)
NM_001042492.3(NF1):c.3866del (p.Phe1289fs)
NM_001042492.3(NF1):c.3871-1G>A rs1567852753
NM_001042492.3(NF1):c.3871-2A>G rs1131691077
NM_001042492.3(NF1):c.3876T>A (p.Tyr1292Ter)
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.3897del (p.Lys1299fs) rs878853890
NM_001042492.3(NF1):c.3898del (p.Leu1300fs)
NM_001042492.3(NF1):c.3903delinsTTATTACGAATTGT (p.Asp1302fs)
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3921del (p.Ile1307fs)
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter) rs2067194816
NM_001042492.3(NF1):c.3943C>T (p.Gln1315Ter) rs2067194846
NM_001042492.3(NF1):c.3948dup (p.Val1317fs) rs1555615559
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.3974+2T>G
NM_001042492.3(NF1):c.3975-1G>A rs1060500370
NM_001042492.3(NF1):c.3975-2A>G rs864622431
NM_001042492.3(NF1):c.3975-2A>T rs864622431
NM_001042492.3(NF1):c.3991_3992del (p.Ser1331fs)
NM_001042492.3(NF1):c.3991del (p.Ser1331fs) rs2151451319
NM_001042492.3(NF1):c.3G>A (p.Met1Ile) rs1598173737
NM_001042492.3(NF1):c.3G>C (p.Met1Ile) rs1598173737
NM_001042492.3(NF1):c.4004del (p.Asn1335fs)
NM_001042492.3(NF1):c.4006_4007del (p.Gln1336fs)
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_001042492.3(NF1):c.407del (p.Asn136fs)
NM_001042492.3(NF1):c.40_52del (p.Val14fs)
NM_001042492.3(NF1):c.4102_4103del (p.Leu1368fs)
NM_001042492.3(NF1):c.4103T>A (p.Leu1368Ter)
NM_001042492.3(NF1):c.4108C>T (p.Gln1370Ter) rs868573462
NM_001042492.3(NF1):c.4109del (p.Gln1370fs) rs2151451681
NM_001042492.3(NF1):c.4110+1G>A rs1555617383
NM_001042492.3(NF1):c.4110+945A>G rs2067468999
NM_001042492.3(NF1):c.4174-2A>G rs1555618489
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4186del (p.Arg1396fs)
NM_001042492.3(NF1):c.4192_4193dup (p.Gln1399fs)
NM_001042492.3(NF1):c.4195del (p.Gln1399fs)
NM_001042492.3(NF1):c.4208del (p.Gly1403fs) rs2067621019
NM_001042492.3(NF1):c.421del (p.Val141fs) rs1131691119
NM_001042492.3(NF1):c.4231del (p.Leu1411fs)
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4259C>G (p.Ser1420Ter)
NM_001042492.3(NF1):c.4262del (p.Pro1421fs) rs1567861977
NM_001042492.3(NF1):c.4263del (p.Tyr1422fs) rs1555618542
NM_001042492.3(NF1):c.4266T>G (p.Tyr1422Ter) rs2151462060
NM_001042492.3(NF1):c.4280del (p.Ile1426_Leu1427insTer)
NM_001042492.3(NF1):c.4288_4289del (p.Lys1430fs)
NM_001042492.3(NF1):c.4300A>T (p.Arg1434Ter) rs2067623934
NM_001042492.3(NF1):c.4313del (p.Gly1438fs) rs2151462156
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4331A>C (p.Lys1444Thr)
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4333del (p.Ile1445fs) rs1597745559
NM_001042492.3(NF1):c.4339C>A (p.Gln1447Lys) rs1135402857
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu) rs1135402857
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4364_4380del (p.Phe1455fs)
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter) rs1567862353
NM_001042492.3(NF1):c.4431-1G>A rs1597746891
NM_001042492.3(NF1):c.4435_4436del (p.Phe1479fs)
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs) rs1555618803
NM_001042492.3(NF1):c.443del (p.Asn148fs)
NM_001042492.3(NF1):c.4457_4458delinsAA (p.Cys1486Ter)
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4477_4502del (p.Asn1493fs)
NM_001042492.3(NF1):c.4483_4484insC (p.Ser1495fs)
NM_001042492.3(NF1):c.449dup (p.Asn151fs)
NM_001042492.3(NF1):c.4506dup (p.Asn1503fs)
NM_001042492.3(NF1):c.4525del (p.Arg1509fs)
NM_001042492.3(NF1):c.4526_4533del (p.Arg1509fs)
NM_001042492.3(NF1):c.453del (p.Asn151fs)
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter) rs1060500242
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.4577+357T>G
NM_001042492.3(NF1):c.4584_4585insTT (p.Lys1529fs)
NM_001042492.3(NF1):c.4587dup (p.Ala1530fs)
NM_001042492.3(NF1):c.4599del (p.Arg1533fs)
NM_001042492.3(NF1):c.4608del (p.Phe1536fs) rs2151466252
NM_001042492.3(NF1):c.4608dup (p.Asp1537Ter)
NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer) rs2065795756
NM_001042492.3(NF1):c.4629del (p.Ala1544fs)
NM_001042492.3(NF1):c.4658del (p.Pro1553fs) rs1555619029
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.4684del (p.Asn1563fs) rs1555619041
NM_001042492.3(NF1):c.4686_4687dup (p.Asn1563fs)
NM_001042492.3(NF1):c.4692dup (p.Thr1565fs)
NM_001042492.3(NF1):c.4693_4694insAA (p.Thr1565fs)
NM_001042492.3(NF1):c.4693dup (p.Thr1565fs)
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4707del (p.Phe1569fs)
NM_001042492.3(NF1):c.4725-2A>C rs1295045178
NM_001042492.3(NF1):c.4751del (p.Phe1584fs) rs2151470069
NM_001042492.3(NF1):c.4765_4777del (p.Thr1589fs)
NM_001042492.3(NF1):c.479+1G>A rs1555606137
NM_001042492.3(NF1):c.479+2T>G
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_001042492.3(NF1):c.480-1G>A rs2065902916
NM_001042492.3(NF1):c.4821T>G (p.Tyr1607Ter) rs1555619416
NM_001042492.3(NF1):c.4824T>G (p.Tyr1608Ter) rs1567865089
NM_001042492.3(NF1):c.482T>G (p.Leu161Ter)
NM_001042492.3(NF1):c.4836-2A>C rs1555533265
NM_001042492.3(NF1):c.4849C>T (p.Gln1617Ter)
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.4854del (p.Asn1619fs)
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs) rs1555533284
NM_001042492.3(NF1):c.4884dup (p.Leu1629fs)
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
NM_001042492.3(NF1):c.4928del (p.Val1643fs) rs2151537791
NM_001042492.3(NF1):c.492_495del (p.Thr165fs)
NM_001042492.3(NF1):c.4947del (p.Pro1650fs) rs2151537841
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs) rs2069329470
NM_001042492.3(NF1):c.4977dup (p.Ser1660fs) rs1597829782
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter) rs1567611375
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.4998dup (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5006_5007dup (p.Ala1670fs)
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter) rs1060500255
NM_001042492.3(NF1):c.501T>A (p.Cys167Ter) rs2143707089
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5037_5040del (p.Tyr1680fs)
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5046del (p.Asn1681_Cys1682insTer)
NM_001042492.3(NF1):c.5054G>A (p.Trp1685Ter)
NM_001042492.3(NF1):c.5061_5064dup (p.Tyr1689fs)
NM_001042492.3(NF1):c.5062del (p.Glu1688fs)
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter) rs756708811
NM_001042492.3(NF1):c.5076T>A (p.Tyr1692Ter) rs1597829961
NM_001042492.3(NF1):c.5080G>T (p.Glu1694Ter)
NM_001042492.3(NF1):c.5087del (p.Leu1696fs) rs1555533368
NM_001042492.3(NF1):c.5115dup (p.Leu1706fs)
NM_001042492.3(NF1):c.5132_5133dup (p.Pro1712fs)
NM_001042492.3(NF1):c.5153dup (p.His1718fs)
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) rs766727694
NM_001042492.3(NF1):c.517del (p.Asp173fs) rs1597643815
NM_001042492.3(NF1):c.5186_5187insG (p.Thr1730fs)
NM_001042492.3(NF1):c.5198del (p.Ala1732_Leu1733insTer)
NM_001042492.3(NF1):c.520del (p.Val174fs)
NM_001042492.3(NF1):c.5247dup (p.Asp1750fs) rs1555533409
NM_001042492.3(NF1):c.5254A>T (p.Lys1752Ter)
NM_001042492.3(NF1):c.5265_5268del (p.Ile1755fs)
NM_001042492.3(NF1):c.5265del (p.Val1757fs)
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5313del (p.Val1772fs) rs2151540910
NM_001042492.3(NF1):c.5318_5319del (p.Leu1773fs)
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter) rs2069376973
NM_001042492.3(NF1):c.5327del (p.Gln1775_Ser1776insTer) rs1131691128
NM_001042492.3(NF1):c.5329del (p.Val1777fs) rs2069377259
NM_001042492.3(NF1):c.5352T>G (p.Tyr1784Ter)
NM_001042492.3(NF1):c.5354del (p.Ala1785fs)
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
NM_001042492.3(NF1):c.5364del (p.Ile1788fs) rs1597831986
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter) rs1597832002
NM_001042492.3(NF1):c.539del (p.Leu180fs)
NM_001042492.3(NF1):c.5400del (p.Thr1800_Leu1801insTer)
NM_001042492.3(NF1):c.5416dup (p.Gln1806fs)
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.544_548del (p.Tyr182fs)
NM_001042492.3(NF1):c.5454del (p.Ala1819fs)
NM_001042492.3(NF1):c.5464C>T (p.Gln1822Ter) rs2069381323
NM_001042492.3(NF1):c.5488del (p.Arg1830fs)
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter) rs2069382585
NM_001042492.3(NF1):c.5494G>T (p.Glu1832Ter) rs2069382639
NM_001042492.3(NF1):c.5496del (p.Glu1832fs) rs2151541558
NM_001042492.3(NF1):c.5514_5517del (p.Ile1839fs) rs1555533621
NM_001042492.3(NF1):c.5516dup (p.Gln1841fs)
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5527_5528del (p.Thr1843fs)
NM_001042492.3(NF1):c.5535del (p.Arg1846fs) rs1567612647
NM_001042492.3(NF1):c.5544del (p.Asp1849fs)
NM_001042492.3(NF1):c.5552del (p.Pro1851fs)
NM_001042492.3(NF1):c.5561T>G (p.Leu1854Arg) rs878853903
NM_001042492.3(NF1):c.5567del (p.Asn1856fs)
NM_001042492.3(NF1):c.5581_5586delinsG (p.Asn1861fs)
NM_001042492.3(NF1):c.5585T>A (p.Leu1862Ter) rs2151541881
NM_001042492.3(NF1):c.5594_5595del (p.Ser1864_Ser1865insTer) rs1555533650
NM_001042492.3(NF1):c.5609+1G>A rs1131691117
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5610-1G>C rs1567613569
NM_001042492.3(NF1):c.5610-1G>T
NM_001042492.3(NF1):c.5610-2A>G rs1135402876
NM_001042492.3(NF1):c.5612C>G (p.Ser1871Ter)
NM_001042492.3(NF1):c.5617del (p.Ala1873fs)
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs) rs1555533842
NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs) rs1131691081
NM_001042492.3(NF1):c.5686dup (p.Ser1896fs)
NM_001042492.3(NF1):c.5687C>A (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.5708del (p.Asn1903fs)
NM_001042492.3(NF1):c.5737A>T (p.Lys1913Ter) rs1597834842
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5746dup (p.Ala1916fs)
NM_001042492.3(NF1):c.5768_5769insA (p.Leu1924fs)
NM_001042492.3(NF1):c.576dup (p.Leu193fs)
NM_001042492.3(NF1):c.5771T>G (p.Leu1924Ter)
NM_001042492.3(NF1):c.5786del (p.Glu1929fs) rs1555533883
NM_001042492.3(NF1):c.5792_5812+7del
NM_001042492.3(NF1):c.5813-184_5813-178dup
NM_001042492.3(NF1):c.5818G>T (p.Glu1940Ter) rs1376900184
NM_001042492.3(NF1):c.5821_5825del (p.Leu1941fs) rs2151550241
NM_001042492.3(NF1):c.5829_5830insTG (p.Leu1944fs) rs1597840008
NM_001042492.3(NF1):c.5853_5855delinsC (p.Trp1952fs)
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter) rs1555534393
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.586+1G>T rs1555607126
NM_001042492.3(NF1):c.586+2T>A
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter) rs2069602711
NM_001042492.3(NF1):c.5866del (p.Asn1955_Leu1956insTer)
NM_001042492.3(NF1):c.5894_5895del (p.Asp1965fs)
NM_001042492.3(NF1):c.5898del (p.Lys1967fs)
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5925del (p.Asp1976fs) rs1060500349
NM_001042492.3(NF1):c.5943_5965dup (p.Tyr1989Ter)
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter) rs876659070
NM_001042492.3(NF1):c.5967C>A (p.Tyr1989Ter)
NM_001042492.3(NF1):c.5971_5978del (p.Ile1992fs) rs1597840273
NM_001042492.3(NF1):c.5977C>T (p.Gln1993Ter)
NM_001042492.3(NF1):c.5989del (p.Trp1997fs)
NM_001042492.3(NF1):c.5990G>A (p.Trp1997Ter)
NM_001042492.3(NF1):c.60+1del
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter) rs1567615941
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6007-1G>C rs1555534596
NM_001042492.3(NF1):c.6007-2A>C
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6009del (p.Thr2004fs) rs1179712488
NM_001042492.3(NF1):c.6013del (p.Asp2005fs) rs1597842221
NM_001042492.3(NF1):c.6030del (p.Val2010_Leu2011insTer)
NM_001042492.3(NF1):c.6049_6050del (p.Thr2017fs)
NM_001042492.3(NF1):c.6077dup (p.Ala2028fs)
NM_001042492.3(NF1):c.6088_6092delinsCAC (p.Val2030fs)
NM_001042492.3(NF1):c.61-2A>G rs1131691100
NM_001042492.3(NF1):c.6132del (p.Lys2044fs)
NM_001042492.3(NF1):c.6136dup (p.Val2046fs) rs1555534618
NM_001042492.3(NF1):c.6147+1G>T rs1060500296
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6149_6150delinsGGC (p.Val2050fs) rs1597842710
NM_001042492.3(NF1):c.6202_6257dup (p.Leu2086_Met2087insLeuTer)
NM_001042492.3(NF1):c.6220dup (p.Met2074fs) rs1555534673
NM_001042492.3(NF1):c.6224G>A (p.Trp2075Ter) rs2151554507
NM_001042492.3(NF1):c.624del (p.Gln209fs)
NM_001042492.3(NF1):c.6253del (p.Met2085fs)
NM_001042492.3(NF1):c.6267_6273del (p.Phe2090fs)
NM_001042492.3(NF1):c.6277del (p.Ser2093fs)
NM_001042492.3(NF1):c.6303_6315dup (p.Val2106fs)
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs) rs1597842936
NM_001042492.3(NF1):c.6307del (p.Leu2103fs) rs1131691125
NM_001042492.3(NF1):c.6314dup (p.His2105fs)
NM_001042492.3(NF1):c.6325_6326delinsA (p.Phe2109fs)
NM_001042492.3(NF1):c.6334del (p.Ala2112fs) rs1555534735
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
NM_001042492.3(NF1):c.6363_6364insGGAA (p.Thr2122fs)
NM_001042492.3(NF1):c.6374_6377delinsAC (p.Leu2125fs)
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs) rs1567617129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6410C>G (p.Ser2137Ter) rs2069691055
NM_001042492.3(NF1):c.6412C>T (p.Gln2138Ter) rs2069691114
NM_001042492.3(NF1):c.641dup (p.Asn214fs)
NM_001042492.3(NF1):c.6427+1G>A rs2151555200
NM_001042492.3(NF1):c.643del (p.Ser215fs) rs1597658192
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.6484del (p.Tyr2162fs) rs2151556124
NM_001042492.3(NF1):c.6486C>G (p.Tyr2162Ter) rs2069704625
NM_001042492.3(NF1):c.6488del (p.Leu2163fs) rs2151556143
NM_001042492.3(NF1):c.6499_6502delinsTG (p.Ile2167fs)
NM_001042492.3(NF1):c.6502del (p.Ser2168fs)
NM_001042492.3(NF1):c.6503del (p.Ser2168fs) rs1597843782
NM_001042492.3(NF1):c.6513_6514delinsTGA (p.Lys2171fs)
NM_001042492.3(NF1):c.6523_6524del (p.Val2175fs)
NM_001042492.3(NF1):c.6537_6540del (p.Ser2180fs)
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.654+2T>A rs2143774762
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.655-1G>A rs2143777263
NM_001042492.3(NF1):c.6555dup (p.Ser2186fs)
NM_001042492.3(NF1):c.6557C>A (p.Ser2186Ter)
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6587_6588delinsG (p.Thr2196fs)
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs) rs2069707755
NM_001042492.3(NF1):c.6616_6619delinsCA (p.Thr2206fs)
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_001042492.3(NF1):c.663G>A (p.Trp221Ter) rs1555608737
NM_001042492.3(NF1):c.6642+1G>T rs1060500345
NM_001042492.3(NF1):c.6642+2T>A rs2069709336
NM_001042492.3(NF1):c.6668del (p.Cys2223fs)
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter) rs2069718249
NM_001042492.3(NF1):c.6686G>A (p.Trp2229Ter) rs2151557496
NM_001042492.3(NF1):c.6686_6697delinsCA (p.Trp2229fs)
NM_001042492.3(NF1):c.6687G>A (p.Trp2229Ter) rs1597844653
NM_001042492.3(NF1):c.6697del (p.Ala2233fs)
NM_001042492.3(NF1):c.6700C>T (p.Gln2234Ter) rs1567617727
NM_001042492.3(NF1):c.6704+1G>A rs1060500376
NM_001042492.3(NF1):c.6704+1G>C rs1060500376
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.6751_6754dup (p.Phe2252fs)
NM_001042492.3(NF1):c.6756del (p.Phe2252fs)
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6789del (p.Gln2263_Ile2264insTer)
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042492.3(NF1):c.6819+1G>A rs1555534964
NM_001042492.3(NF1):c.6819+3A>C
NM_001042492.3(NF1):c.6820-2A>C rs2151559073
NM_001042492.3(NF1):c.6820G>T (p.Ala2274Ser) rs1555535023
NM_001042492.3(NF1):c.6834C>A (p.Cys2278Ter)
NM_001042492.3(NF1):c.6853dup (p.Tyr2285fs)
NM_001042492.3(NF1):c.6858_6859del (p.Asn2286fs) rs1555535044
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6906del (p.Gln2302fs) rs1597846091
NM_001042492.3(NF1):c.6914_6915insATTAT (p.Asn2306fs)
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.6921+2del
NM_001042492.3(NF1):c.6921+4A>G rs752841251
NM_001042492.3(NF1):c.6922-1G>C rs1131691115
NM_001042492.3(NF1):c.6936_6954del (p.His2312fs)
NM_001042492.3(NF1):c.6963dup (p.Val2322fs)
NM_001042492.3(NF1):c.6972del (p.Gln2324fs)
NM_001042492.3(NF1):c.6993_7008del (p.Ser2332fs) rs1555535177
NM_001042492.3(NF1):c.699del (p.Lys233fs)
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter) rs1060500359
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter) rs2069793099
NM_001042492.3(NF1):c.702_711delinsATA (p.Gln236fs)
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs) rs1597848201
NM_001042492.3(NF1):c.7038del (p.Asp2346fs)
NM_001042492.3(NF1):c.7062+1G>A rs863224492
NM_001042492.3(NF1):c.7063-1G>T rs1131691114
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
NM_001042492.3(NF1):c.706dup (p.Gln236fs) rs1597658661
NM_001042492.3(NF1):c.7081del (p.Met2361fs)
NM_001042492.3(NF1):c.7107G>A (p.Trp2369Ter) rs1060500286
NM_001042492.3(NF1):c.7114A>T (p.Lys2372Ter) rs776506332
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter) rs1555535434
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7160del (p.Asn2387fs)
NM_001042492.3(NF1):c.7163_7164del (p.Phe2388fs)
NM_001042492.3(NF1):c.7171del (p.Val2391fs) rs2151565274
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs) rs777872719
NM_001042492.3(NF1):c.7188dup (p.Gly2397fs)
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter) rs2070073649
NM_001042492.3(NF1):c.7209del (p.Ala2404fs) rs2070074227
NM_001042492.3(NF1):c.7229_7232del (p.Val2410fs)
NM_001042492.3(NF1):c.7249_7258dup (p.Val2420fs)
NM_001042492.3(NF1):c.7249del (p.Leu2416_Leu2417insTer) rs1597858445
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7287del (p.Phe2429fs) rs1135402902
NM_001042492.3(NF1):c.730+1G>A rs1060500274
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.7307dup (p.Ala2437fs)
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7322del (p.Ala2441fs) rs1131691113
NM_001042492.3(NF1):c.7325T>A (p.Leu2442Ter)
NM_001042492.3(NF1):c.732dup (p.Cys245fs)
NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
NM_001042492.3(NF1):c.7375A>T (p.Lys2459Ter)
NM_001042492.3(NF1):c.7389del (p.Thr2464fs)
NM_001042492.3(NF1):c.7391_7407del (p.Thr2464fs)
NM_001042492.3(NF1):c.739G>T (p.Glu247Ter) rs2143784954
NM_001042492.3(NF1):c.7434del (p.His2479fs)
NM_001042492.3(NF1):c.7442del (p.Gly2481fs) rs2151574635
NM_001042492.3(NF1):c.7450_7453del (p.Ser2484fs)
NM_001042492.3(NF1):c.7455_7456dup (p.Arg2486fs) rs2151574678
NM_001042492.3(NF1):c.745del (p.Leu249fs)
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter) rs1555536340
NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter) rs863224493
NM_001042492.3(NF1):c.7496del (p.Gly2499fs) rs1555536352
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter) rs1555536359
NM_001042492.3(NF1):c.7527_7528insTA (p.Thr2510Ter)
NM_001042492.3(NF1):c.7528dup (p.Thr2510fs)
NM_001042492.3(NF1):c.755del (p.Leu252fs)
NM_001042492.3(NF1):c.7561delinsCC (p.Ser2521fs)
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter) rs1555536372
NM_001042492.3(NF1):c.7596dup (p.Asn2533fs)
NM_001042492.3(NF1):c.7606_7615+1del rs1131691120
NM_001042492.3(NF1):c.7614del (p.Gly2539fs) rs2070173038
NM_001042492.3(NF1):c.7615G>T (p.Gly2539Ter)
NM_001042492.3(NF1):c.7644dup (p.Ser2549fs) rs2151581069
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
NM_001042492.3(NF1):c.7647del (p.Asp2550fs) rs1597865773
NM_001042492.3(NF1):c.7662_7664delinsAG (p.Lys2555fs) rs1567626632
NM_001042492.3(NF1):c.7663A>T (p.Lys2555Ter)
NM_001042492.3(NF1):c.768del (p.Phe256fs) rs1597659830
NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer) rs1060500295
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7749del (p.Ile2584fs) rs2151582195
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter) rs1555536687
NM_001042492.3(NF1):c.7765C>T (p.Gln2589Ter) rs1555536689
NM_001042492.3(NF1):c.7783A>T (p.Lys2595Ter)
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs) rs1597866414
NM_001042492.3(NF1):c.7805del (p.Asn2602fs)
NM_001042492.3(NF1):c.7811del (p.Leu2604fs) rs1555536701
NM_001042492.3(NF1):c.7838del (p.Pro2613fs) rs1131691129
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs) rs1131691129
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter) rs1555536713
NM_001042492.3(NF1):c.7880dup (p.Tyr2629fs)
NM_001042492.3(NF1):c.7898_7899dup (p.Phe2634fs)
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter) rs567988442
NM_001042492.3(NF1):c.7908del (p.Gln2636fs) rs1597866872
NM_001042492.3(NF1):c.7912del (p.Ile2638fs)
NM_001042492.3(NF1):c.7918dup (p.Tyr2640fs)
NM_001042492.3(NF1):c.7928_7929insGT (p.Leu2643_Ala2644insTer)
NM_001042492.3(NF1):c.793dup (p.Ala265fs)
NM_001042492.3(NF1):c.7950del (p.Val2653fs) rs2070298779
NM_001042492.3(NF1):c.7962del (p.Pro2655fs)
NM_001042492.3(NF1):c.7971-2A>G rs779079091
NM_001042492.3(NF1):c.7979del (p.Leu2660fs) rs2151584799
NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter) rs1567627709
NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter) rs1555536882
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8010del (p.Leu2671fs)
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_001042492.3(NF1):c.8044del (p.His2682fs)
NM_001042492.3(NF1):c.8056C>T (p.Gln2686Ter) rs2151585015
NM_001042492.3(NF1):c.8067del (p.Tyr2690fs)
NM_001042492.3(NF1):c.8074G>T (p.Glu2692Ter) rs2070327932
NM_001042492.3(NF1):c.8087del (p.Pro2696fs)
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.8099_8100insTA (p.Ser2701fs)
NM_001042492.3(NF1):c.8110C>T (p.Gln2704Ter)
NM_001042492.3(NF1):c.8113+86A>G
NM_001042492.3(NF1):c.8113+93A>T
NM_001042492.3(NF1):c.8129del (p.Gly2710fs)
NM_001042492.3(NF1):c.818del (p.Leu273fs) rs2143786053
NM_001042492.3(NF1):c.823_827del (p.Ile275fs) rs2143786096
NM_001042492.3(NF1):c.875del (p.Asn292fs) rs1597660090
NM_001042492.3(NF1):c.888+1G>A rs1135402799
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.901del (p.Asp301fs)
NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
NM_001042492.3(NF1):c.935del (p.Gly312fs)
NM_001042492.3(NF1):c.937_938dup (p.Ser313fs)
NM_001042492.3(NF1):c.93dup (p.Thr32fs) rs1597625887
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_001042492.3(NF1):c.950_951insTT (p.Thr317_Glu318insTer)
NM_001042492.3(NF1):c.952G>T (p.Glu318Ter)
NM_001042492.3(NF1):c.952_953del (p.Glu318fs) rs2066507116
NM_001042492.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_001042492.3(NF1):c.953_956del (p.Glu318fs)
NM_001042492.3(NF1):c.955del (p.Ser319fs) rs876660931
NM_001042492.3(NF1):c.971del (p.Cys324fs)
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001042492.3(NF1):c.987_991del (p.Ala330fs)
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter) rs2066508538
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer) rs2143873634
NM_001042492.3(NF1):c.99del (p.Val34fs) rs1060500320
NM_006767.3(LZTR1):c.264delG
NM_006767.3(LZTR1):c.404dupG
NM_006767.3(LZTR1):c.594delG
NM_006767.4(LZTR1):c.1019_1022del (p.Arg340fs) rs2147965393
NM_006767.4(LZTR1):c.1026T>A (p.Cys342Ter)
NM_006767.4(LZTR1):c.1032del (p.Glu345fs)
NM_006767.4(LZTR1):c.1037del (p.Glu346fs)
NM_006767.4(LZTR1):c.1048del (p.Thr349_Leu350insTer)
NM_006767.4(LZTR1):c.1056T>G (p.Tyr352Ter)
NM_006767.4(LZTR1):c.1058_1059delinsC (p.Glu353fs)
NM_006767.4(LZTR1):c.1076del (p.Lys359fs)
NM_006767.4(LZTR1):c.1078_1079insCTT (p.Lys360delinsThrTer)
NM_006767.4(LZTR1):c.111_115del (p.Ser37fs)
NM_006767.4(LZTR1):c.1126C>T (p.Gln376Ter) rs772293748
NM_006767.4(LZTR1):c.1135C>T (p.Gln379Ter)
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1149+1G>C
NM_006767.4(LZTR1):c.1149+1G>T
NM_006767.4(LZTR1):c.1149+1dup
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)
NM_006767.4(LZTR1):c.1164del (p.Arg388fs)
NM_006767.4(LZTR1):c.1171del (p.His391fs)
NM_006767.4(LZTR1):c.1190C>A (p.Ser397Ter) rs1241079044
NM_006767.4(LZTR1):c.120C>G (p.Tyr40Ter)
NM_006767.4(LZTR1):c.1214del (p.Gly405fs)
NM_006767.4(LZTR1):c.1219del (p.Val407fs)
NM_006767.4(LZTR1):c.1226del (p.Asn409fs)
NM_006767.4(LZTR1):c.1230_1231del (p.Ile411fs)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1243G>T (p.Glu415Ter)
NM_006767.4(LZTR1):c.1246del (p.Met416fs)
NM_006767.4(LZTR1):c.1251dup (p.Arg418fs) rs2147966059
NM_006767.4(LZTR1):c.1258C>T (p.Gln420Ter) rs2147966067
NM_006767.4(LZTR1):c.1266_1267del (p.Cys423fs)
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
NM_006767.4(LZTR1):c.1273_1279delinsTAAGG (p.Pro425_Cys427delinsTer)
NM_006767.4(LZTR1):c.1283del (p.Thr428fs)
NM_006767.4(LZTR1):c.1291G>T (p.Glu431Ter)
NM_006767.4(LZTR1):c.1310G>A (p.Trp437Ter) rs746949078
NM_006767.4(LZTR1):c.1312G>T (p.Glu438Ter)
NM_006767.4(LZTR1):c.1317_1323dup (p.Phe442fs) rs1131691862
NM_006767.4(LZTR1):c.1321C>T (p.Gln441Ter)
NM_006767.4(LZTR1):c.1329C>A (p.Cys443Ter)
NM_006767.4(LZTR1):c.1354_1355insG (p.Lys452fs)
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)
NM_006767.4(LZTR1):c.1360_1361delinsTGC (p.Glu454fs)
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)
NM_006767.4(LZTR1):c.1369C>T (p.Gln457Ter)
NM_006767.4(LZTR1):c.1391del (p.Thr464fs)
NM_006767.4(LZTR1):c.1406G>A (p.Trp469Ter)
NM_006767.4(LZTR1):c.141del (p.Phe48fs)
NM_006767.4(LZTR1):c.1426C>T (p.Gln476Ter)
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter) rs752547717
NM_006767.4(LZTR1):c.1449+1G>A
NM_006767.4(LZTR1):c.1456_1468del (p.Glu486fs)
NM_006767.4(LZTR1):c.1459C>T (p.Gln487Ter)
NM_006767.4(LZTR1):c.145G>T (p.Glu49Ter)
NM_006767.4(LZTR1):c.145_148del (p.Glu49fs)
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
NM_006767.4(LZTR1):c.1472dup (p.Val492fs)
NM_006767.4(LZTR1):c.1480del (p.Arg494fs)
NM_006767.4(LZTR1):c.1483del (p.Glu495fs)
NM_006767.4(LZTR1):c.1491del (p.Gly498fs)
NM_006767.4(LZTR1):c.1493del (p.Gly498fs)
NM_006767.4(LZTR1):c.1522dup (p.Leu508fs)
NM_006767.4(LZTR1):c.1531del (p.Val511fs) rs771982640
NM_006767.4(LZTR1):c.1543G>T (p.Glu515Ter)
NM_006767.4(LZTR1):c.1549G>T (p.Glu517Ter)
NM_006767.4(LZTR1):c.1564dup (p.Glu522fs)
NM_006767.4(LZTR1):c.1575dup (p.Gln526fs)
NM_006767.4(LZTR1):c.1602del (p.Lys534fs) rs1268674934
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter) rs753347937
NM_006767.4(LZTR1):c.1611del (p.Gly539fs)
NM_006767.4(LZTR1):c.1612A>T (p.Lys538Ter)
NM_006767.4(LZTR1):c.161G>A (p.Trp54Ter)
NM_006767.4(LZTR1):c.1634_1637dup (p.Ile547fs)
NM_006767.4(LZTR1):c.1653C>A (p.Tyr551Ter)
NM_006767.4(LZTR1):c.1653C>G (p.Tyr551Ter)
NM_006767.4(LZTR1):c.165_181dup (p.Asp61fs)
NM_006767.4(LZTR1):c.1672C>T (p.Gln558Ter)
NM_006767.4(LZTR1):c.1673_1693delinsGG (p.Gln558fs)
NM_006767.4(LZTR1):c.1681del (p.Arg561fs) rs2147967929
NM_006767.4(LZTR1):c.1687G>T (p.Glu563Ter)
NM_006767.4(LZTR1):c.1690C>T (p.Gln564Ter)
NM_006767.4(LZTR1):c.1698C>A (p.Cys566Ter)
NM_006767.4(LZTR1):c.1726del (p.Leu576fs)
NM_006767.4(LZTR1):c.1733del (p.Asn578fs)
NM_006767.4(LZTR1):c.1741del (p.Val581fs)
NM_006767.4(LZTR1):c.1749C>A (p.Cys583Ter)
NM_006767.4(LZTR1):c.1751dup (p.Ser585fs) rs1569157346
NM_006767.4(LZTR1):c.1753_1754del (p.Ser585fs)
NM_006767.4(LZTR1):c.1772_1773insTCGCCCGGCTGCAGCT (p.Ser592fs)
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
NM_006767.4(LZTR1):c.1807del (p.Val602_Val603insTer)
NM_006767.4(LZTR1):c.180C>A (p.Cys60Ter) rs766446110
NM_006767.4(LZTR1):c.1828C>T (p.Gln610Ter) rs2147968331
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
NM_006767.4(LZTR1):c.1846G>T (p.Glu616Ter)
NM_006767.4(LZTR1):c.1850_1851dup (p.Glu618fs)
NM_006767.4(LZTR1):c.1858dup (p.Leu620fs)
NM_006767.4(LZTR1):c.1863_1897del (p.Ser622fs)
NM_006767.4(LZTR1):c.1864_1868del (p.Ser622fs)
NM_006767.4(LZTR1):c.1866_1867del (p.Pro623fs)
NM_006767.4(LZTR1):c.1874_1890del (p.Ile625fs)
NM_006767.4(LZTR1):c.1877_1880dup (p.Glu627fs)
NM_006767.4(LZTR1):c.1886del (p.Val629fs)
NM_006767.4(LZTR1):c.1896del (p.Lys632fs)
NM_006767.4(LZTR1):c.1897C>T (p.Gln633Ter)
NM_006767.4(LZTR1):c.1900C>T (p.Gln634Ter)
NM_006767.4(LZTR1):c.1909_1910del (p.Pro637fs)
NM_006767.4(LZTR1):c.1915_1916del (p.Thr639fs)
NM_006767.4(LZTR1):c.193_195delinsA (p.Gly65fs)
NM_006767.4(LZTR1):c.1941del (p.Ile647fs)
NM_006767.4(LZTR1):c.1950_1961delinsG (p.Leu651fs)
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter) rs760312637
NM_006767.4(LZTR1):c.1974C>A (p.Tyr658Ter)
NM_006767.4(LZTR1):c.1974C>G (p.Tyr658Ter) rs939793375
NM_006767.4(LZTR1):c.1978G>T (p.Glu660Ter)
NM_006767.4(LZTR1):c.199del (p.Arg67fs)
NM_006767.4(LZTR1):c.19_21delinsCC (p.Thr7fs)
NM_006767.4(LZTR1):c.19del (p.Thr7fs)
NM_006767.4(LZTR1):c.1A>G (p.Met1Val) rs1569152752
NM_006767.4(LZTR1):c.2001_2002del (p.Cys667_Asp668delinsTer)
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.2013_2014del (p.Leu672fs)
NM_006767.4(LZTR1):c.2025del (p.His676fs)
NM_006767.4(LZTR1):c.2059_2060insT (p.Ala687fs)
NM_006767.4(LZTR1):c.2073C>A (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2083_2084del (p.Met695fs)
NM_006767.4(LZTR1):c.2089del (p.Arg697fs) rs2147969560
NM_006767.4(LZTR1):c.209_216del (p.Lys70fs)
NM_006767.4(LZTR1):c.20_21delinsA (p.Thr7fs)
NM_006767.4(LZTR1):c.20del (p.Thr7fs)
NM_006767.4(LZTR1):c.2104G>T (p.Glu702Ter)
NM_006767.4(LZTR1):c.210_211del (p.Thr72fs)
NM_006767.4(LZTR1):c.2113C>T (p.Gln705Ter) rs778396468
NM_006767.4(LZTR1):c.2149del (p.Arg717fs)
NM_006767.4(LZTR1):c.214dup (p.Thr72fs)
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter) rs767482247
NM_006767.4(LZTR1):c.2159del (p.Phe720fs) rs1924832357
NM_006767.4(LZTR1):c.215_216del (p.Thr72fs)
NM_006767.4(LZTR1):c.2166del (p.Met723fs)
NM_006767.4(LZTR1):c.2174dup (p.Tyr726fs)
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2178C>G (p.Tyr726Ter)
NM_006767.4(LZTR1):c.2178_2179dup (p.Ile727fs)
NM_006767.4(LZTR1):c.2186dup (p.Tyr729Ter)
NM_006767.4(LZTR1):c.2193_2194delinsA (p.Val732fs)
NM_006767.4(LZTR1):c.2198dup (p.Asn733fs)
NM_006767.4(LZTR1):c.2216C>A (p.Ser739Ter)
NM_006767.4(LZTR1):c.2223C>A (p.Tyr741Ter)
NM_006767.4(LZTR1):c.2229del (p.Phe743fs) rs1924863769
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2239_2242del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2241C>A (p.Tyr747Ter)
NM_006767.4(LZTR1):c.2247C>A (p.Tyr749Ter) rs779077819
NM_006767.4(LZTR1):c.2256C>A (p.Tyr752Ter)
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter) rs1924868328
NM_006767.4(LZTR1):c.2291_2301del (p.Leu764fs)
NM_006767.4(LZTR1):c.2302del (p.Asn767_Val768insTer) rs1924869044
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs) rs1231204217
NM_006767.4(LZTR1):c.2304del (p.Thr769fs)
NM_006767.4(LZTR1):c.2323C>T (p.Gln775Ter)
NM_006767.4(LZTR1):c.238dup (p.Ile80fs)
NM_006767.4(LZTR1):c.2406G>C (p.Lys802Asn) rs1284200353
NM_006767.4(LZTR1):c.25_26delinsA (p.Gly9fs)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.286del (p.Leu96fs)
NM_006767.4(LZTR1):c.301A>T (p.Lys101Ter)
NM_006767.4(LZTR1):c.314G>A (p.Trp105Ter)
NM_006767.4(LZTR1):c.315G>A (p.Trp105Ter)
NM_006767.4(LZTR1):c.321-2del
NM_006767.4(LZTR1):c.325_328del (p.Phe109fs)
NM_006767.4(LZTR1):c.346del (p.Ala116fs)
NM_006767.4(LZTR1):c.348_349insT (p.Pro117fs) rs1555927544
NM_006767.4(LZTR1):c.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.356dup (p.Tyr119Ter)
NM_006767.4(LZTR1):c.357C>G (p.Tyr119Ter)
NM_006767.4(LZTR1):c.365C>A (p.Ser122Ter) rs587777177
NM_006767.4(LZTR1):c.37del (p.Ala13fs)
NM_006767.4(LZTR1):c.382dup (p.Ser128fs) rs2147961500
NM_006767.4(LZTR1):c.3G>A (p.Met1Ile)
NM_006767.4(LZTR1):c.415del (p.Asp139fs)
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
NM_006767.4(LZTR1):c.428del (p.Asn143fs)
NM_006767.4(LZTR1):c.42_44delinsCG (p.Leu16fs)
NM_006767.4(LZTR1):c.438del (p.Lys147fs) rs1555927613
NM_006767.4(LZTR1):c.439A>T (p.Lys147Ter)
NM_006767.4(LZTR1):c.454_458del (p.Asp151_Leu152insTer)
NM_006767.4(LZTR1):c.458_459del (p.Leu152_Phe153insTer) rs1924461126
NM_006767.4(LZTR1):c.462dup (p.Tyr155fs)
NM_006767.4(LZTR1):c.466A>T (p.Lys156Ter)
NM_006767.4(LZTR1):c.466_469del (p.Lys156fs)
NM_006767.4(LZTR1):c.467del (p.Lys156fs)
NM_006767.4(LZTR1):c.481C>T (p.Gln161Ter) rs2147962049
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter) rs1569154722
NM_006767.4(LZTR1):c.496A>T (p.Lys166Ter)
NM_006767.4(LZTR1):c.509+1G>A
NM_006767.4(LZTR1):c.519del (p.Ala174fs)
NM_006767.4(LZTR1):c.542_543del (p.Thr181fs)
NM_006767.4(LZTR1):c.549C>G (p.Tyr183Ter)
NM_006767.4(LZTR1):c.549_550del (p.Tyr183_Ser184delinsTer)
NM_006767.4(LZTR1):c.563G>A (p.Trp188Ter) rs1924497235
NM_006767.4(LZTR1):c.570del (p.Phe190fs)
NM_006767.4(LZTR1):c.578_579del (p.Gly192_Tyr193insTer)
NM_006767.4(LZTR1):c.594-1G>A
NM_006767.4(LZTR1):c.594-1G>C
NM_006767.4(LZTR1):c.5_11dup (p.Gly5fs)
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
NM_006767.4(LZTR1):c.606del (p.Met202fs)
NM_006767.4(LZTR1):c.607del (p.Trp203fs)
NM_006767.4(LZTR1):c.610del (p.Thr204fs)
NM_006767.4(LZTR1):c.622C>T (p.Gln208Ter)
NM_006767.4(LZTR1):c.628dup (p.Arg210fs) rs1457594219
NM_006767.4(LZTR1):c.636_638delinsT (p.Thr213fs)
NM_006767.4(LZTR1):c.645G>A (p.Trp215Ter)
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.650A>C (p.Glu217Ala)
NM_006767.4(LZTR1):c.671del (p.Ile224fs)
NM_006767.4(LZTR1):c.672_673delinsA (p.Pro226fs)
NM_006767.4(LZTR1):c.677del (p.Pro226fs)
NM_006767.4(LZTR1):c.677dup (p.Ser227fs) rs777054968
NM_006767.4(LZTR1):c.682del (p.Cys228fs)
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
NM_006767.4(LZTR1):c.696del (p.Val233fs)
NM_006767.4(LZTR1):c.696dup (p.Val233fs)
NM_006767.4(LZTR1):c.718del (p.Met240fs)
NM_006767.4(LZTR1):c.722_725del (p.Phe241fs)
NM_006767.4(LZTR1):c.735dup (p.Gln246fs)
NM_006767.4(LZTR1):c.736C>T (p.Gln246Ter)
NM_006767.4(LZTR1):c.741_742del (p.Ser247fs)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.748A>T (p.Lys250Ter)
NM_006767.4(LZTR1):c.751del (p.Lys250_Ile251insTer)
NM_006767.4(LZTR1):c.752_758dup (p.Leu255fs)
NM_006767.4(LZTR1):c.769C>T (p.Gln257Ter)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006767.4(LZTR1):c.775del (p.Glu259fs)
NM_006767.4(LZTR1):c.77del (p.Pro26fs)
NM_006767.4(LZTR1):c.787_788del (p.Lys263fs)
NM_006767.4(LZTR1):c.794G>A (p.Trp265Ter)
NM_006767.4(LZTR1):c.834_840dup (p.Pro281fs)
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.851G>A (p.Arg284His) rs768361273
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)
NM_006767.4(LZTR1):c.855C>G (p.Tyr285Ter)
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs) rs767445373
NM_006767.4(LZTR1):c.891T>A (p.Tyr297Ter)
NM_006767.4(LZTR1):c.891T>G (p.Tyr297Ter)
NM_006767.4(LZTR1):c.897dup (p.Gly300fs)
NM_006767.4(LZTR1):c.902del (p.Gly301fs)
NM_006767.4(LZTR1):c.902dup (p.Ala302fs)
NM_006767.4(LZTR1):c.928_931del (p.Glu310fs)
NM_006767.4(LZTR1):c.933_940dup (p.Tyr314fs)
NM_006767.4(LZTR1):c.946del (p.Val316fs)
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_006767.4(LZTR1):c.962G>A (p.Trp321Ter)
NM_006767.4(LZTR1):c.962_964del (p.Trp321_Glu322delinsTer)
NM_006767.4(LZTR1):c.963G>A (p.Trp321Ter)
NM_006767.4(LZTR1):c.964G>T (p.Glu322Ter)
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
NM_006767.4(LZTR1):c.985del (p.Asp329fs)
NM_006767.4(LZTR1):c.987_988dup (p.Ser330fs)
NM_006767.4(LZTR1):c.991G>T (p.Glu331Ter)
NM_006767.4(LZTR1):c.993+1G>T rs770368435

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